Abstract

Introduction

Arhinia, congenital absence of the nose, is a rare malformation. We present the third
reported case of arhinia accompanied by hypogonadism and demonstrate that this is
due to gonadotropin deficiency.

Case presentation

A 13-year-old Caucasian boy with congenital arhinia presented for evaluation of delayed
puberty and micropenis. We examined genes known to be associated with hypogonadotropic
hypogonadism for mutations and performed a chromosomal microarray to assess copy number
variation.

Conclusion

No mutations in KAL1, FGFR1, PROK2, PROKR2, FGF8, CHD7 and GnRHR were identified in our patient and there were no copy number variations observed
that would explain the phenotype. Though studies are limited in such patients, we
suggest that hypogonadotropic hypogonadism is associated with arhinia and that the
two entities likely result from a common genetic cause that affects early nasal development
and gonadotropin-releasing hormone neuron formation or migration.